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1162716000: Camptodactyly of finger (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4591020019 Camptodactyly of finger (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591021015 Camptodactyly of finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591020019 Camptodactyly of finger (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591021015 Camptodactyly of finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5817581000241118 camptodactylie d'un doigt, sauf le pouce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817591000241116 camptodactylie d'un doigt de II à V fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817581000241118 camptodactylie d'un doigt, sauf le pouce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817591000241116 camptodactylie d'un doigt de II à V fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly of finger (disorder) Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly of finger (disorder) Is a Camptodactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly of finger (disorder) Is a Finding of musculoskeletal structure of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly of finger (disorder) Is a Flexion deformity of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly of finger (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly of finger (disorder) Finding site Musculoskeletal structure of finger (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly of finger (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly of finger (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly of finger (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly taurinuria syndrome (disorder) Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly of bilateral fingers Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly-little finger (disorder) Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non syndromic camptodactyly of fingers (disorder) Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age. Is a True Camptodactyly of finger (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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